Table 1 Basic demographics of 28 PALB2 mutation carriers with tumour material available for pathology review
From: Tumour morphology predicts PALB2 germline mutation status
Mutation | Probands | Relatives | Ages of diagnosis | Resource | Reference |
---|---|---|---|---|---|
PALB2 c.3113G>A | 3 | 2 | 28, 35, 37, 42, 47 | Australian BCFR | |
2 | 0 | 45, 57 | Ontario BCFR | — | |
1 | 0 | 48 | Utah BCFR | — | |
7 | 4 | 32, 40, 41, 47, 47, 48, 49, 49, 54, 61, 63 | kConFab | ||
5a | 0 | 33, 38, 42, 44, 45 | VFBCC | ||
PALB2 c.196C>T | 1 | 0 | 43 | kConFab | |
PALB2 c.1947_1948insA | 1 | 0 | 42 | kConFab | |
PALB2 c.2982_2983insT | 1 | 1 | 47, 54 | kConFab |